Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25269 | 76030;76031;76032 | chr2:178570327;178570326;178570325 | chr2:179435054;179435053;179435052 |
| N2AB | 23628 | 71107;71108;71109 | chr2:178570327;178570326;178570325 | chr2:179435054;179435053;179435052 |
| N2A | 22701 | 68326;68327;68328 | chr2:178570327;178570326;178570325 | chr2:179435054;179435053;179435052 |
| N2B | 16204 | 48835;48836;48837 | chr2:178570327;178570326;178570325 | chr2:179435054;179435053;179435052 |
| Novex-1 | 16329 | 49210;49211;49212 | chr2:178570327;178570326;178570325 | chr2:179435054;179435053;179435052 |
| Novex-2 | 16396 | 49411;49412;49413 | chr2:178570327;178570326;178570325 | chr2:179435054;179435053;179435052 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs774210794  |
-2.084 | 1.0 | D | 0.864 | 0.72 | 0.909910919441 | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03541E-04 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs774210794 |
-2.084 | 1.0 | D | 0.864 | 0.72 | 0.909910919441 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs774210794 |
-2.084 | 1.0 | D | 0.864 | 0.72 | 0.909910919441 | gnomAD-4.0.0 | 1.85969E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.47267E-05 | None | 0 | 0 | 8.47738E-07 | 0 | 0 |
| L/P | rs1415495029 |
-1.9 | 1.0 | D | 0.853 | 0.864 | 0.927247187115 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| L/P | rs1415495029 |
-1.9 | 1.0 | D | 0.853 | 0.864 | 0.927247187115 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-06 | 0 | 0 |
| L/V | None | None | 0.999 | D | 0.845 | 0.653 | 0.881801733039 | gnomAD-4.0.0 | 2.73767E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59835E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9844 | likely_pathogenic | 0.9879 | pathogenic | -2.737 | Highly Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| L/C | 0.9688 | likely_pathogenic | 0.9778 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.153 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/E | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -2.949 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/F | 0.8474 | likely_pathogenic | 0.8939 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.649653375 | None | None | N |
| L/G | 0.995 | likely_pathogenic | 0.9965 | pathogenic | -3.271 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| L/H | 0.992 | likely_pathogenic | 0.9949 | pathogenic | -2.68 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.675998703 | None | None | N |
| L/I | 0.4504 | ambiguous | 0.4921 | ambiguous | -1.194 | Destabilizing | 0.999 | D | 0.836 | deleterious | D | 0.648644353 | None | None | N |
| L/K | 0.9947 | likely_pathogenic | 0.9966 | pathogenic | -2.129 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/M | 0.4972 | ambiguous | 0.5403 | ambiguous | -1.106 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/N | 0.9948 | likely_pathogenic | 0.9963 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/P | 0.9954 | likely_pathogenic | 0.9968 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.675998703 | None | None | N |
| L/Q | 0.9892 | likely_pathogenic | 0.9928 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/R | 0.9881 | likely_pathogenic | 0.9924 | pathogenic | -1.735 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.675998703 | None | None | N |
| L/S | 0.997 | likely_pathogenic | 0.9981 | pathogenic | -3.13 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| L/T | 0.9869 | likely_pathogenic | 0.9903 | pathogenic | -2.784 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| L/V | 0.6083 | likely_pathogenic | 0.6606 | pathogenic | -1.69 | Destabilizing | 0.999 | D | 0.845 | deleterious | D | 0.59303556 | None | None | N |
| L/W | 0.9798 | likely_pathogenic | 0.988 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| L/Y | 0.9792 | likely_pathogenic | 0.987 | pathogenic | -1.86 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.